title: Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
abstract: Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those with advanced disease. We report a case of a 63-year-old patient with significant morbidity who made notable motor and pulmonary function gains after two years on therapy. Thus, improvements in those with advanced disease may be possible after long-term treatment.
authors.affiliation: Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina, NC 27708, USA. case0001@mc.duke.edu
authors.forename: Laura E
authors.initials: LE
authors.lastname: Case
authors.forename: Dwight D
authors.initials: DD
authors.lastname: Koeberl
authors.forename: Sarah P
authors.initials: SP
authors.lastname: Young
authors.forename: Deeksha
authors.initials: D
authors.lastname: Bali
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: DeArmey
authors.forename: Joanne
authors.initials: J
authors.lastname: Mackey
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D001691:Biological Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000201:enzymology* / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D008875:Middle Aged; D009043:Motor Activity; D016896:Treatment Outcome; D000520:alpha-Glucosidases / Q000008:administration & dosage*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases